MCID: PTT030
MIFTS: 24

Pitt-Hopkins-Like Syndrome 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Pitt-Hopkins-Like Syndrome 2

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome 2:

Name: Pitt-Hopkins-Like Syndrome 2 57 75 29 13 6 40 73
Pthsl2 57 75
Mesh; D006985 75
Mesh; D008607 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three patients have been reported (as of february 2012)


HPO:

32
pitt-hopkins-like syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pitt-Hopkins-Like Syndrome 2

UniProtKB/Swiss-Prot : 75 Pitt-Hopkins-like syndrome 2: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt- Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones.

MalaCards based summary : Pitt-Hopkins-Like Syndrome 2, also known as pthsl2, is related to pitt-hopkins-like syndrome 1 and pitt-hopkins syndrome, and has symptoms including constipation and breath-holding spell. An important gene associated with Pitt-Hopkins-Like Syndrome 2 is NRXN1 (Neurexin 1). Affiliated tissues include tongue, and related phenotypes are wide mouth and strabismus

Description from OMIM: 614325

Related Diseases for Pitt-Hopkins-Like Syndrome 2

Diseases in the Pitt-Hopkins Syndrome family:

Pitt-Hopkins-Like Syndrome 1 Pitt-Hopkins-Like Syndrome 2
Pitt-Hopkins-Like Syndrome

Diseases related to Pitt-Hopkins-Like Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 1 11.2
2 pitt-hopkins syndrome 11.2
3 pitt-hopkins-like syndrome 9.0 LOC101927089 NRXN1

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Head And Neck Eyes:
strabismus

Respiratory:
hyperventilation
breath-holding spells

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities
self-harming behaviors

Neurologic Peripheral Nervous System:
hyporeflexia in the upper limbs

Skeletal Spine:
scoliosis

Head And Neck Mouth:
protruding tongue
drooling
broad mouth

Neurologic Central Nervous System:
hypotonia
mental retardation, severe
developmental regression after the first year
epileptic encephalopathy (in 2 of 3 patients)
broad-based gait (1 patient)
more
Cardiovascular Heart:
pulmonary stenosis

Endocrine Features:
early-onset puberty (in 2 of 3 patients)


Clinical features from OMIM:

614325

Human phenotypes related to Pitt-Hopkins-Like Syndrome 2:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 strabismus 32 HP:0000486
3 generalized hypotonia 32 HP:0001290
4 pulmonic stenosis 32 HP:0001642
5 constipation 32 HP:0002019
6 gastroesophageal reflux 32 HP:0002020
7 broad-based gait 32 occasional (7.5%) HP:0002136
8 drooling 32 HP:0002307
9 scoliosis 32 HP:0002650
10 hyperventilation 32 HP:0002883
11 protruding tongue 32 HP:0010808
12 intellectual disability, severe 32 HP:0010864
13 feeding difficulties 32 HP:0011968
14 epileptic encephalopathy 32 frequent (33%) HP:0200134

UMLS symptoms related to Pitt-Hopkins-Like Syndrome 2:


constipation, breath-holding spell

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome 2

Search Clinical Trials , NIH Clinical Center for Pitt-Hopkins-Like Syndrome 2

Genetic Tests for Pitt-Hopkins-Like Syndrome 2

Genetic tests related to Pitt-Hopkins-Like Syndrome 2:

# Genetic test Affiliating Genes
1 Pitt-Hopkins-Like Syndrome 2 29 NRXN1

Anatomical Context for Pitt-Hopkins-Like Syndrome 2

MalaCards organs/tissues related to Pitt-Hopkins-Like Syndrome 2:

41
Tongue

Publications for Pitt-Hopkins-Like Syndrome 2

Variations for Pitt-Hopkins-Like Syndrome 2

ClinVar genetic disease variations for Pitt-Hopkins-Like Syndrome 2:

6
(show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 NRXN1 NRXN1, 180-KB DEL, EX1-4 deletion Pathogenic
2 NRXN1 NM_001135659.2(NRXN1): c.3056C> G (p.Ser1019Ter) single nucleotide variant Pathogenic rs267606922 GRCh37 Chromosome 2, 50723177: 50723177
3 NRXN1 NM_001135659.2(NRXN1): c.3056C> G (p.Ser1019Ter) single nucleotide variant Pathogenic rs267606922 GRCh38 Chromosome 2, 50496039: 50496039
4 NRXN1 NRXN1, 79-KB DEL deletion Pathogenic
5 NRXN1 NRXN1, 287-KB DEL deletion Pathogenic
6 NRXN1 NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144049982 GRCh37 Chromosome 2, 51253562: 51253562
7 NRXN1 NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144049982 GRCh38 Chromosome 2, 51026424: 51026424
8 NRXN1 NM_001135659.2(NRXN1): c.2065A> G (p.Ile689Val) single nucleotide variant Uncertain significance rs200074974 GRCh37 Chromosome 2, 50765589: 50765589
9 NRXN1 NM_001135659.2(NRXN1): c.2065A> G (p.Ile689Val) single nucleotide variant Uncertain significance rs200074974 GRCh38 Chromosome 2, 50538451: 50538451
10 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh37 Chromosome 2, 51254843: 51254843
11 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh38 Chromosome 2, 51027705: 51027705
12 NRXN1 NM_001135659.2(NRXN1): c.1502C> T (p.Pro501Leu) single nucleotide variant Uncertain significance rs530674644 GRCh37 Chromosome 2, 50780102: 50780102
13 NRXN1 NM_001135659.2(NRXN1): c.1502C> T (p.Pro501Leu) single nucleotide variant Uncertain significance rs530674644 GRCh38 Chromosome 2, 50552964: 50552964
14 NRXN1 NM_001135659.2(NRXN1): c.1808T> C (p.Ile603Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201837579 GRCh37 Chromosome 2, 50779796: 50779796
15 NRXN1 NM_001135659.2(NRXN1): c.1808T> C (p.Ile603Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201837579 GRCh38 Chromosome 2, 50552658: 50552658
16 NRXN1 NM_001135659.2(NRXN1): c.1446A> C (p.Val482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201485014 GRCh37 Chromosome 2, 50780158: 50780158
17 NRXN1 NM_001135659.2(NRXN1): c.1446A> C (p.Val482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201485014 GRCh38 Chromosome 2, 50553020: 50553020
18 NRXN1 NM_001135659.2(NRXN1): c.2128C> G (p.Pro710Ala) single nucleotide variant Uncertain significance rs762326241 GRCh37 Chromosome 2, 50765526: 50765526
19 NRXN1 NM_001135659.2(NRXN1): c.2128C> G (p.Pro710Ala) single nucleotide variant Uncertain significance rs762326241 GRCh38 Chromosome 2, 50538388: 50538388
20 NRXN1 NM_001135659.2(NRXN1): c.4458T> C (p.Leu1486=) single nucleotide variant Benign/Likely benign rs796052759 GRCh38 Chromosome 2, 49922130: 49922130
21 NRXN1 NM_001135659.2(NRXN1): c.4458T> C (p.Leu1486=) single nucleotide variant Benign/Likely benign rs796052759 GRCh37 Chromosome 2, 50149268: 50149268
22 NRXN1 NM_001135659.2(NRXN1): c.4357G> A (p.Gly1453Ser) single nucleotide variant Uncertain significance rs200604893 GRCh37 Chromosome 2, 50149369: 50149369
23 NRXN1 NM_001135659.2(NRXN1): c.4357G> A (p.Gly1453Ser) single nucleotide variant Uncertain significance rs200604893 GRCh38 Chromosome 2, 49922231: 49922231
24 NRXN1 NM_001135659.2(NRXN1): c.4131G> C (p.Glu1377Asp) single nucleotide variant Uncertain significance rs200935246 GRCh37 Chromosome 2, 50280526: 50280526
25 NRXN1 NM_001135659.2(NRXN1): c.4131G> C (p.Glu1377Asp) single nucleotide variant Uncertain significance rs200935246 GRCh38 Chromosome 2, 50053388: 50053388
26 NRXN1 NM_001135659.2(NRXN1): c.3715G> A (p.Ala1239Thr) single nucleotide variant Likely benign rs201336161 GRCh37 Chromosome 2, 50318584: 50318584
27 NRXN1 NM_001135659.2(NRXN1): c.3715G> A (p.Ala1239Thr) single nucleotide variant Likely benign rs201336161 GRCh38 Chromosome 2, 50091446: 50091446
28 NRXN1 NM_001135659.2(NRXN1): c.3401A> G (p.Asn1134Ser) single nucleotide variant Uncertain significance rs201963074 GRCh37 Chromosome 2, 50692663: 50692663
29 NRXN1 NM_001135659.2(NRXN1): c.3401A> G (p.Asn1134Ser) single nucleotide variant Uncertain significance rs201963074 GRCh38 Chromosome 2, 50465525: 50465525
30 NRXN1 NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=) single nucleotide variant Conflicting interpretations of pathogenicity rs201886024 GRCh37 Chromosome 2, 50699590: 50699590
31 NRXN1 NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=) single nucleotide variant Conflicting interpretations of pathogenicity rs201886024 GRCh38 Chromosome 2, 50472452: 50472452
32 NRXN1 NM_001135659.2(NRXN1): c.3152C> T (p.Thr1051Met) single nucleotide variant Uncertain significance rs199980022 GRCh37 Chromosome 2, 50723081: 50723081
33 NRXN1 NM_001135659.2(NRXN1): c.3152C> T (p.Thr1051Met) single nucleotide variant Uncertain significance rs199980022 GRCh38 Chromosome 2, 50495943: 50495943
34 NRXN1 NM_001135659.2(NRXN1): c.2892C> T (p.Tyr964=) single nucleotide variant Conflicting interpretations of pathogenicity rs200182626 GRCh37 Chromosome 2, 50724578: 50724578
35 NRXN1 NM_001135659.2(NRXN1): c.2892C> T (p.Tyr964=) single nucleotide variant Conflicting interpretations of pathogenicity rs200182626 GRCh38 Chromosome 2, 50497440: 50497440
36 NRXN1 NM_001135659.2(NRXN1): c.2717T> C (p.Ile906Thr) single nucleotide variant Uncertain significance rs796052779 GRCh37 Chromosome 2, 50724753: 50724753
37 NRXN1 NM_001135659.2(NRXN1): c.2717T> C (p.Ile906Thr) single nucleotide variant Uncertain significance rs796052779 GRCh38 Chromosome 2, 50497615: 50497615
38 NRXN1 NM_001135659.2(NRXN1): c.2684G> A (p.Arg895Gln) single nucleotide variant Uncertain significance rs796052776 GRCh37 Chromosome 2, 50724786: 50724786
39 NRXN1 NM_001135659.2(NRXN1): c.2684G> A (p.Arg895Gln) single nucleotide variant Uncertain significance rs796052776 GRCh38 Chromosome 2, 50497648: 50497648
40 NRXN1 NM_001135659.2(NRXN1): c.2653C> T (p.His885Tyr) single nucleotide variant Uncertain significance rs199784139 GRCh37 Chromosome 2, 50724817: 50724817
41 NRXN1 NM_001135659.2(NRXN1): c.2653C> T (p.His885Tyr) single nucleotide variant Uncertain significance rs199784139 GRCh38 Chromosome 2, 50497679: 50497679
42 NRXN1 NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs80293130 GRCh37 Chromosome 2, 50733671: 50733671
43 NRXN1 NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs80293130 GRCh38 Chromosome 2, 50506533: 50506533
44 NRXN1 NM_001135659.2(NRXN1): c.2157G> A (p.Pro719=) single nucleotide variant Conflicting interpretations of pathogenicity rs199714221 GRCh37 Chromosome 2, 50765497: 50765497
45 NRXN1 NM_001135659.2(NRXN1): c.2157G> A (p.Pro719=) single nucleotide variant Conflicting interpretations of pathogenicity rs199714221 GRCh38 Chromosome 2, 50538359: 50538359
46 NRXN1 NM_001135659.2(NRXN1): c.1412G> A (p.Ser471Asn) single nucleotide variant Uncertain significance rs796052788 GRCh38 Chromosome 2, 50620050: 50620050
47 NRXN1 NM_001135659.2(NRXN1): c.1412G> A (p.Ser471Asn) single nucleotide variant Uncertain significance rs796052788 GRCh37 Chromosome 2, 50847188: 50847188
48 NRXN1 NM_001135659.2(NRXN1): c.880A> G (p.Asn294Asp) single nucleotide variant Uncertain significance rs781179797 GRCh38 Chromosome 2, 50925947: 50925947
49 NRXN1 NM_001135659.2(NRXN1): c.880A> G (p.Asn294Asp) single nucleotide variant Uncertain significance rs781179797 GRCh37 Chromosome 2, 51153085: 51153085
50 NRXN1 NM_001135659.2(NRXN1): c.4287C> G (p.Pro1429=) single nucleotide variant Conflicting interpretations of pathogenicity rs143446587 GRCh37 Chromosome 2, 50170891: 50170891

Expression for Pitt-Hopkins-Like Syndrome 2

Search GEO for disease gene expression data for Pitt-Hopkins-Like Syndrome 2.

Pathways for Pitt-Hopkins-Like Syndrome 2

GO Terms for Pitt-Hopkins-Like Syndrome 2

Sources for Pitt-Hopkins-Like Syndrome 2

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